Wow! The amount of information poured into my brain this weekend was incredible! I’m coming home with a page long to do list as well as another page of questions to follow up on. I also have half a dozen pages of notes. We had a variety of speakers. There were several doctors from the NIH, where we visited last year, though Pacific’s team wasn’t there this year. They brought in researchers from Texas, Child Life Specialists, a dermatologist, and a number of XP parents. I’d like to bullet some of the information shared.

• “Dermatology”- Average age of non-melanoma cancers in XP patients is 9 years old. The average age of melanoma for XP patients is 22 years old. (Because Pacific was diagnosed early and able to be protected, we are hoping it will be many more years before he develops any cancers.) XP types A, B, and D burn like Pacific. Types C, E, and V don’t burn and thus tend to be diagnosed later.
• “My Child, Your Patient”- Presentation by the Child Life specialists at a local hospital.
• “XP Business Cards”- We got some fun examples of business cards about XP that people hand out to those they meet. A friend has made some for us which we will be ordering soon.
• “Across the Pond Update”- The UK is doing some amazing things! They have a clinic for XP patients with specialists in a number of areas on staff. They also have a protocol for children with severe sunburns or with freckling appearing before age 2 to be referred for testing. Sandra shared her son’s story and how he is raising money for a charity riding across the UK on a rickshaw.

• “Incandescent vs LED Lighting”- Luckily we already knew that LED was the way to go, but it was great to find out about some of the options available and find out about some of the specifics for picking out lighting.
• “Disaster Planning”- This was a very motivating session. I have some new ideas for making sure we are prepared in case of disaster, and in particular, making sure that emergency personnel know about Pacific’s medical condition even if I’m unable to tell them.
• “Erivedge and Skin Cancer Treatment”- This seems like a great option for some XP patients. Thankfully so far, this isn’t something we have to worry about with Pacific.
• “A Rapid Assay to Measure DNA Repair Capacity”- Amazing research happening in Texas! They are studying genome instability disorders including XP. A big advancement they are working on is developing a rapid test for XP. In the past, it has taken months to culture skin cells in order to test for DNA repair issues, but with new protocols they will be able to do it in less than two days! I’m planning to have blood samples sent so they can continue to refine the process, and as a part of that, we will be able to find out what percentage of functionality Pacific’s DNA repair mechanisms exhibit. Other therapies they are interested in are DNA repair agonists, stem cells, anti-inflammatories, and anti-oxidants.
• “XP Neurologic Disease: Possible mechanisms, ongoing studies, and gene therapy”- We saw pictures of what a neuro-affected XP brain looks like, and how it is different from a neurotypical brain. They explained how UV doesn’t go through to the brain, so they know the neuro issues associated with XP aren’t related to UV. One hypothesis is that ionizing radiation causes free radicals. The neurons are affected when two T bases stick together, and then they die, and the brain begins to have glial cells instead of neurons. Because neurons are affected, it is known as a primary neurodegenerative disease. Gene therapy to treat the neuro issues may become a possibility in the next few decades, which is a very exciting development! They would be replacing brain cells using cerebrospinal fluid.
• “Obstetric and Gynecologic Health in Patients with XP”- I skipped this session since it isn’t relevant to me as my child with XP is male. One interesting tidbit I gleaned from those who do attend is that some women with XP have early puberty, followed by menopause in their late 20’s. It was not clear to me if boys with XP are also likely to undergo early puberty, as the study referenced was just on females.
• “Siblings with XP”- We got some great suggestions on dealing with XP in our family. One idea was to
• “A Practical Guide to Living without UV”- One of the other XP parents gave some fantastic explanations and suggestions. One particularly interesting bit involves the special plastic we use for making XP gear, putting on windows, etc. He explained how there is a wavelength of UVA rays that don’t cause DNA damage. Our meter picks up those rays, and that is why we don’t get a zero read, but it still is safe for people with XP. He also shared information about what fabric materials provide the most UV protection, sources for UV film, and other details about UV safety.
• “Prevention of Skin Cancer in XP”- This researcher shared quite a bit about drugs that are being used prophylactically in DNA damaged areas to prevent cancers.
• “XP Round Table”- They spend between $50,000 and $75,000 to put on this conference for the families and medical professionals. They also have taken multiple trips to a village in Guatemala where many people have XP. On those they’ve provided medical care and education. They also filmed a documentary, and the trailer for it can be viewed below. I’d like to encourage anyone reading to donate to the XP Family Support Group. They are a non-profit, so if your company has a program where you can donate through payroll (and maybe even provides a matching donation!) I would encourage you to look into that.

There was also a lot of informal education. I may have cornered one of the doctors from NIH in order to seek out more answers about the neurology component of XP. What I found out was very encouraging and informative! Pacific has been diagnosed with delays in a number of areas over the last year- speech, gross motor, and educational (cognitive, social, and adaptive.) He is learning and advancing, but not as quickly as most other kids. Because Pacific has an approximately 50% chance of developing neurological deterioration as a part of his XP-D, we have been concerned that this could be an early sign of problems to come.

What I found out is that XP-D is the most complex of the types of XP. Because of where the break is in the Nucleotide Excision Repair gene, it can present differently in different patients, and it also affects more than just DNA repair. With XP-D there are transcription errors, which can affect not just repairing DNA that is damaged by UV, but producing proteins in general. The delays as he develops may be a function of his body just not building itself very efficiently, and not a symptom of the severe issues that can be caused by neurological deterioration.

Something else I learned is that many XP patients rather petite. They aren’t quite sure why this occurs, as tests have shown that they produce growth hormones normally. Pacific has also been rather small for his age and it is helpful to know that there is a reason for it.

This is just some of the massive amount of information shared at the conference. I have pages and pages of notes and am hoping to get copies of some of the PowerPoints since I couldn’t always write as fast as the presenters talked!

We just left the XP Family Support Group Medical Conference in Kansas City. This conference happens every two years and brought close to 150 people from the US as well 5 other countries. The adults have three days of learning with topics ranging from the practical- making business cards to explain XP to people you encounter, to finding about current research on neurologic issues in individuals with XP.

Firefly Kids Camp happened at the same time for all the kids. They have crafts and games as well as education on healthy skin care. More importantly, they get to spend time with other kids whose families have been changed by XP. Liberty made fast friends with several other girls her age who have the same condition as Pacific. The XPFSG had made special arrangements for Pacific to be cared for and participate in kids’ activities while I was in conference, but his dad elected not to allow him to come at the last minute.

The final, but one of the most important components of the conference was connecting with the other families and enjoying time with your own. They arranged special activities for us each night- three nights at the indoor waterpark, a trip to Arrowhead Stadium, and a visit to Legoland and other attractions in Crown Centre. It was an amazing experience!

More posts forthcoming about the emotional intensity of the conference, what I learned, and the conference from a kid’s perspective.